chr8-143611669-C-T

Variant names:

• chr8-143611669-C-T
• rs2045084

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.439 in 152,138 control chromosomes in the GnomAD database, including 18,334 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.44 (18334 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.02
• Publications: 15 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.605 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.440 AC: 66847 AN: 152020 Hom.: 18338 Cov.: 33

Gnomad AFR AF: 0.119

Gnomad AMI AF: 0.564

Gnomad AMR AF: 0.506

Gnomad ASJ AF: 0.500

Gnomad EAS AF: 0.214

Gnomad SAS AF: 0.372

Gnomad FIN AF: 0.603

Gnomad MID AF: 0.538

Gnomad NFE AF: 0.610

Gnomad OTH AF: 0.493

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.439 AC: 66838 AN: 152138 Hom.: 18334 Cov.: 33 AF XY: 0.437 AC XY: 32506 AN XY: 74372

African (AFR) AF: 0.119 AC: 4924 AN: 41508

American (AMR) AF: 0.506 AC: 7732 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.500 AC: 1736 AN: 3472

East Asian (EAS) AF: 0.214 AC: 1107 AN: 5176

South Asian (SAS) AF: 0.372 AC: 1792 AN: 4818

European-Finnish (FIN) AF: 0.603 AC: 6381 AN: 10590

Middle Eastern (MID) AF: 0.541 AC: 159 AN: 294

European-Non Finnish (NFE) AF: 0.610 AC: 41464 AN: 67972

Other (OTH) AF: 0.489 AC: 1030 AN: 2108

Alfa AF: 0.548 Hom.: 33572

Bravo AF: 0.417

Asia WGS AF: 0.253 AC: 885 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.1
DANN	Benign	0.84
PhyloP100		-2.0

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs2045084; hg19: chr8-144693839;